Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

Ben Weisburd; Rakshya Sharma; Villem Pata; Tiia Reimand; Vijay S. Ganesh; Christina Austin-Tse; Ikeoluwa Osei-Owusu; Emily O’Heir; Melanie O’Leary; Lynn Pais; Seth A. Stafki; Audrey L. Daugherty; Chiara Folland; Stojan Perić; Nagia Fahmy; Bjarne Udd; Magda Horakova; Anna Łusakowska; Rajanna Manoj; Atchayaram Nalini; Veronika Karcagi; Kiran Polavarapu; Hanns Lochmüller; Rita Horvath; Carsten G. Bönnemann; Sandra Donkervoort; Göknur Haliloğlu; Ozlem Herguner; Peter B. Kang; Gianina Ravenscroft; Nigel Laing; Hamish S. Scott; Ana Töpf; Volker Straub; Sander Pajusalu; Katrin Õunap; Grace Tiao; Heidi L. Rehm; Anne O’Donnell-Luria

doi:10.1016/j.gim.2024.101336

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S. Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O’Heir, Melanie O’Leary, Lynn Pais, Seth A. Stafki, Audrey L. Daugherty, Chiara Folland, Stojan Perić, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Łusakowska, Rajanna Manoj, Atchayaram NaliniVeronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G. Bönnemann, Sandra Donkervoort, Göknur Haliloğlu, Ozlem Herguner, Peter B. Kang, Gianina Ravenscroft, Nigel Laing, Hamish S. Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Heidi L. Rehm, Anne O’Donnell-Luria

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Article number	101336
Journal	GENETICS IN MEDICINE
DOIs	https://doi.org/10.1016/j.gim.2024.101336
Publication status	E-pub ahead of print - Dec 2024
Publication type	A1 Journal article-refereed

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Publication forum level 3

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10.1016/j.gim.2024.101336

Cite this

Weisburd, B., Sharma, R., Pata, V., Reimand, T., Ganesh, V. S., Austin-Tse, C., Osei-Owusu, I., O’Heir, E., O’Leary, M., Pais, L., Stafki, S. A., Daugherty, A. L., Folland, C., Perić, S., Fahmy, N., Udd, B., Horakova, M., Łusakowska, A., Manoj, R., ... O’Donnell-Luria, A. (2024). Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. GENETICS IN MEDICINE, Article 101336. Advance online publication. https://doi.org/10.1016/j.gim.2024.101336

@article{ac94ce84de994bdc877fc50385a299d6,

title = "Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets",

author = "Ben Weisburd and Rakshya Sharma and Villem Pata and Tiia Reimand and Ganesh, \{Vijay S.\} and Christina Austin-Tse and Ikeoluwa Osei-Owusu and Emily O{\textquoteright}Heir and Melanie O{\textquoteright}Leary and Lynn Pais and Stafki, \{Seth A.\} and Daugherty, \{Audrey L.\} and Chiara Folland and Stojan Peri{\'c} and Nagia Fahmy and Bjarne Udd and Magda Horakova and Anna {\L}usakowska and Rajanna Manoj and Atchayaram Nalini and Veronika Karcagi and Kiran Polavarapu and Hanns Lochm{\"u}ller and Rita Horvath and B{\"o}nnemann, \{Carsten G.\} and Sandra Donkervoort and G{\"o}knur Haliloğlu and Ozlem Herguner and Kang, \{Peter B.\} and Gianina Ravenscroft and Nigel Laing and Scott, \{Hamish S.\} and Ana T{\"o}pf and Volker Straub and Sander Pajusalu and Katrin {\~O}unap and Grace Tiao and Rehm, \{Heidi L.\} and Anne O{\textquoteright}Donnell-Luria",

year = "2024",

month = dec,

doi = "10.1016/j.gim.2024.101336",

language = "English",

journal = "GENETICS IN MEDICINE",

issn = "1098-3600",

publisher = "Nature Publishing Group",

}

Weisburd, B, Sharma, R, Pata, V, Reimand, T, Ganesh, VS, Austin-Tse, C, Osei-Owusu, I, O’Heir, E, O’Leary, M, Pais, L, Stafki, SA, Daugherty, AL, Folland, C, Perić, S, Fahmy, N, Udd, B, Horakova, M, Łusakowska, A, Manoj, R, Nalini, A, Karcagi, V, Polavarapu, K, Lochmüller, H, Horvath, R, Bönnemann, CG, Donkervoort, S, Haliloğlu, G, Herguner, O, Kang, PB, Ravenscroft, G, Laing, N, Scott, HS, Töpf, A, Straub, V, Pajusalu, S, Õunap, K, Tiao, G, Rehm, HL & O’Donnell-Luria, A 2024, 'Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets', GENETICS IN MEDICINE. https://doi.org/10.1016/j.gim.2024.101336

TY - JOUR

T1 - Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

AU - Weisburd, Ben

AU - Sharma, Rakshya

AU - Pata, Villem

AU - Reimand, Tiia

AU - Ganesh, Vijay S.

AU - Austin-Tse, Christina

AU - Osei-Owusu, Ikeoluwa

AU - O’Heir, Emily

AU - O’Leary, Melanie

AU - Pais, Lynn

AU - Stafki, Seth A.

AU - Daugherty, Audrey L.

AU - Folland, Chiara

AU - Perić, Stojan

AU - Fahmy, Nagia

AU - Udd, Bjarne

AU - Horakova, Magda

AU - Łusakowska, Anna

AU - Manoj, Rajanna

AU - Nalini, Atchayaram

AU - Karcagi, Veronika

AU - Polavarapu, Kiran

AU - Lochmüller, Hanns

AU - Horvath, Rita

AU - Bönnemann, Carsten G.

AU - Donkervoort, Sandra

AU - Haliloğlu, Göknur

AU - Herguner, Ozlem

AU - Kang, Peter B.

AU - Ravenscroft, Gianina

AU - Laing, Nigel

AU - Scott, Hamish S.

AU - Töpf, Ana

AU - Straub, Volker

AU - Pajusalu, Sander

AU - Õunap, Katrin

AU - Tiao, Grace

AU - Rehm, Heidi L.

AU - O’Donnell-Luria, Anne

PY - 2024/12

Y1 - 2024/12

U2 - 10.1016/j.gim.2024.101336

DO - 10.1016/j.gim.2024.101336

M3 - Article

SN - 1098-3600

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

M1 - 101336

ER -